Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

作者：Korkut Sabriye^*; Bastug Osman; Raygada Margarita; Hatipoglu Nihal; Kurtoglu Selim; Kendirci Mustafa; Lyssikatos Charalampos; Stratakis Constantine A

来源：Journal of Clinical Research in Pediatric Endocrinology, 2016, 8(4): 468-471.

DOI：10.4274/jcrpe.2539

• Deletions
• X-chromosome
• glycerol kinase
• adrenal insufficiency

Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both infants had normal serum 17-hidroxyprogesterone levels, and adrenal glands could not be observed with ultrasonography. Creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. Both patients required steroid and salt supplementation. They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1). We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation.

• 出版日期2016-12
• 单位NIH